AOA1
MCID: ATX007
MIFTS: 17

Ataxia with Oculomotor Apraxia Type 1 (AOA1) malady

Ear category

Summaries for Ataxia with Oculomotor Apraxia Type 1

Sources:
19GeneReviews, 33MalaCards
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MalaCards: Ataxia with Oculomotor Apraxia Type 1, also known as ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, is related to apraxia and ataxia. An important gene associated with Ataxia with Oculomotor Apraxia Type 1 is APTX (aprataxin), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds coq10 and dopamine have been mentioned in the context of this disorder. Related mouse phenotype taste/olfaction.

GeneReviews summary for aoa

Aliases & Classifications for Ataxia with Oculomotor Apraxia Type 1

Sources:
8Disease Ontology, 19GeneReviews, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear


Aliases & Descriptions:

ataxia with oculomotor apraxia type 1 8 19
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 61
aoa1 19


External Ids:

Disease Ontology8 DOID:0050754

Related Diseases for Ataxia with Oculomotor Apraxia Type 1

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Ataxia with Oculomotor Apraxia Type 1:



Diseases related to ataxia with oculomotor apraxia type 1

Clinical Features for Ataxia with Oculomotor Apraxia Type 1

Drugs & Therapeutics for Ataxia with Oculomotor Apraxia Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ataxia with Oculomotor Apraxia Type 1

Drug clinical trials:

Search ClinicalTrials for Ataxia with Oculomotor Apraxia Type 1

Search NIH Clinical Center for Ataxia with Oculomotor Apraxia Type 1

Search CenterWatch for Ataxia with Oculomotor Apraxia Type 1

Genetic Tests for Ataxia with Oculomotor Apraxia Type 1

Anatomical Context for Ataxia with Oculomotor Apraxia Type 1

Animal Models for Ataxia with Oculomotor Apraxia Type 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Ataxia with Oculomotor Apraxia Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1SLC6A3, HTT

Publications for Ataxia with Oculomotor Apraxia Type 1

Genetic Variations for Ataxia with Oculomotor Apraxia Type 1

Expression for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Search GEO for disease gene expression data for Ataxia with Oculomotor Apraxia Type 1.

Pathways for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Sources:
54Reactome, 30KEGG
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Pathways related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1SLC6A3, HTT

Compounds for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1coq10459.3APTX, HTT
2dopamine45 29 11 2412.1SLC6A3, HTT
3minocycline45 1110.0SLC6A3, HTT
4nmda45 299.8SLC6A3, HTT

GO Terms for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Sources:
16Gene Ontology
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Cellular components related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.1SLC6A3, HTT

Biological processes related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.0SLC6A3, APTX
2locomotory behaviorGO:0076268.8SLC6A3, HTT

Molecular functions related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:0474859.0SLC6A3, APTX

Products for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ataxia with Oculomotor Apraxia Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet